Incidental Mutation 'IGL01630:Ankrd34c'
ID |
92900 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ankrd34c
|
Ensembl Gene |
ENSMUSG00000047606 |
Gene Name |
ankyrin repeat domain 34C |
Synonyms |
B230218L05Rik, LOC330998 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
IGL01630
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
89607298-89620528 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 89611879 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 154
(T154I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140919
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060700]
[ENSMUST00000185470]
|
AlphaFold |
Q8BLB8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060700
AA Change: T154I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000056787 Gene: ENSMUSG00000047606 AA Change: T154I
Domain | Start | End | E-Value | Type |
ANK
|
10 |
39 |
1.16e3 |
SMART |
ANK
|
43 |
80 |
1.46e-2 |
SMART |
ANK
|
84 |
114 |
1.52e0 |
SMART |
ANK
|
118 |
147 |
1.33e2 |
SMART |
low complexity region
|
150 |
165 |
N/A |
INTRINSIC |
low complexity region
|
462 |
474 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000185470
AA Change: T154I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000140919 Gene: ENSMUSG00000047606 AA Change: T154I
Domain | Start | End | E-Value | Type |
ANK
|
10 |
39 |
1.16e3 |
SMART |
ANK
|
43 |
80 |
1.46e-2 |
SMART |
ANK
|
84 |
114 |
1.52e0 |
SMART |
ANK
|
118 |
147 |
1.33e2 |
SMART |
low complexity region
|
150 |
165 |
N/A |
INTRINSIC |
low complexity region
|
462 |
474 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam30 |
A |
G |
3: 98,069,171 (GRCm39) |
T207A |
possibly damaging |
Het |
Ak8 |
T |
A |
2: 28,602,291 (GRCm39) |
M75K |
probably benign |
Het |
Aldh1a7 |
A |
T |
19: 20,673,693 (GRCm39) |
|
probably benign |
Het |
Arrb2 |
A |
G |
11: 70,327,697 (GRCm39) |
I120M |
probably damaging |
Het |
Atp2a1 |
A |
G |
7: 126,049,437 (GRCm39) |
V535A |
probably benign |
Het |
Cckbr |
G |
T |
7: 105,083,293 (GRCm39) |
W165C |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,564,648 (GRCm39) |
H1677Q |
probably damaging |
Het |
Fancd2 |
T |
C |
6: 113,540,085 (GRCm39) |
F658S |
probably damaging |
Het |
Gm5581 |
A |
T |
6: 131,145,259 (GRCm39) |
|
noncoding transcript |
Het |
H2-M3 |
A |
G |
17: 37,581,548 (GRCm39) |
E70G |
possibly damaging |
Het |
Hltf |
A |
G |
3: 20,137,068 (GRCm39) |
|
probably benign |
Het |
Ighv1-24 |
C |
A |
12: 114,736,673 (GRCm39) |
V76F |
probably benign |
Het |
Igkv1-110 |
A |
T |
6: 68,248,145 (GRCm39) |
R85W |
probably damaging |
Het |
Kif9 |
A |
C |
9: 110,314,138 (GRCm39) |
R43S |
probably benign |
Het |
Klf11 |
T |
C |
12: 24,710,368 (GRCm39) |
I472T |
probably benign |
Het |
Napsa |
A |
G |
7: 44,236,089 (GRCm39) |
Y376C |
probably damaging |
Het |
Notch2 |
C |
T |
3: 98,053,934 (GRCm39) |
A2199V |
possibly damaging |
Het |
Or10a5 |
A |
T |
7: 106,636,318 (GRCm39) |
|
probably benign |
Het |
Or1e30 |
A |
G |
11: 73,678,687 (GRCm39) |
K308E |
probably benign |
Het |
Pcnt |
T |
A |
10: 76,256,080 (GRCm39) |
D720V |
probably damaging |
Het |
Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
Ptk6 |
T |
C |
2: 180,838,859 (GRCm39) |
E298G |
probably damaging |
Het |
Rbm27 |
T |
A |
18: 42,434,905 (GRCm39) |
L323H |
probably damaging |
Het |
Sall3 |
A |
G |
18: 81,014,484 (GRCm39) |
L1076P |
probably benign |
Het |
Sprr2h |
A |
G |
3: 92,294,258 (GRCm39) |
N35S |
unknown |
Het |
Susd1 |
T |
C |
4: 59,365,817 (GRCm39) |
D412G |
possibly damaging |
Het |
Ugdh |
T |
A |
5: 65,574,248 (GRCm39) |
M432L |
probably benign |
Het |
Uggt2 |
C |
T |
14: 119,280,184 (GRCm39) |
V765I |
probably benign |
Het |
Unc13d |
T |
C |
11: 115,964,692 (GRCm39) |
Q258R |
probably benign |
Het |
Wdfy3 |
A |
T |
5: 102,055,354 (GRCm39) |
F1572Y |
probably benign |
Het |
Xpo1 |
A |
G |
11: 23,235,846 (GRCm39) |
T645A |
probably benign |
Het |
Zer1 |
A |
G |
2: 29,991,843 (GRCm39) |
V659A |
probably damaging |
Het |
|
Other mutations in Ankrd34c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00910:Ankrd34c
|
APN |
9 |
89,611,079 (GRCm39) |
missense |
probably benign |
0.15 |
IGL01683:Ankrd34c
|
APN |
9 |
89,611,850 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01886:Ankrd34c
|
APN |
9 |
89,612,318 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02323:Ankrd34c
|
APN |
9 |
89,612,033 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02679:Ankrd34c
|
APN |
9 |
89,612,132 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03000:Ankrd34c
|
APN |
9 |
89,611,239 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03008:Ankrd34c
|
APN |
9 |
89,612,337 (GRCm39) |
start codon destroyed |
probably null |
0.05 |
R0024:Ankrd34c
|
UTSW |
9 |
89,611,580 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0107:Ankrd34c
|
UTSW |
9 |
89,611,537 (GRCm39) |
missense |
probably benign |
|
R1602:Ankrd34c
|
UTSW |
9 |
89,611,058 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1879:Ankrd34c
|
UTSW |
9 |
89,612,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R4114:Ankrd34c
|
UTSW |
9 |
89,611,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R4115:Ankrd34c
|
UTSW |
9 |
89,611,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R4116:Ankrd34c
|
UTSW |
9 |
89,611,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R4291:Ankrd34c
|
UTSW |
9 |
89,611,817 (GRCm39) |
nonsense |
probably null |
|
R5012:Ankrd34c
|
UTSW |
9 |
89,611,709 (GRCm39) |
missense |
probably benign |
0.00 |
R5020:Ankrd34c
|
UTSW |
9 |
89,611,759 (GRCm39) |
missense |
probably benign |
0.16 |
R5747:Ankrd34c
|
UTSW |
9 |
89,611,814 (GRCm39) |
missense |
possibly damaging |
0.60 |
R6766:Ankrd34c
|
UTSW |
9 |
89,611,381 (GRCm39) |
missense |
probably benign |
|
R7011:Ankrd34c
|
UTSW |
9 |
89,611,001 (GRCm39) |
nonsense |
probably null |
|
R7614:Ankrd34c
|
UTSW |
9 |
89,610,914 (GRCm39) |
missense |
probably damaging |
0.96 |
R7651:Ankrd34c
|
UTSW |
9 |
89,611,463 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8006:Ankrd34c
|
UTSW |
9 |
89,611,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R8082:Ankrd34c
|
UTSW |
9 |
89,610,768 (GRCm39) |
missense |
probably damaging |
1.00 |
R8337:Ankrd34c
|
UTSW |
9 |
89,611,951 (GRCm39) |
missense |
probably damaging |
0.98 |
R8891:Ankrd34c
|
UTSW |
9 |
89,612,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R9245:Ankrd34c
|
UTSW |
9 |
89,610,940 (GRCm39) |
missense |
probably damaging |
0.97 |
R9361:Ankrd34c
|
UTSW |
9 |
89,612,183 (GRCm39) |
missense |
probably damaging |
0.98 |
R9392:Ankrd34c
|
UTSW |
9 |
89,611,787 (GRCm39) |
missense |
possibly damaging |
0.82 |
X0022:Ankrd34c
|
UTSW |
9 |
89,611,879 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-12-09 |